India's First Child using PGT-M, PGT-A and HLA Matching for Helping a Sibling having β-Thalassemia Major.

Autor: Banker JM; NOVA IVI Fertility, Ahmedabad, Gujarat, India., Arora P; NOVA IVI Fertility, Ahmedabad, Gujarat, India., Khajuria R; Igenomix, New Delhi, India., Banker M; NOVA IVI Fertility, Ahmedabad, Gujarat, India.
Jazyk: angličtina
Zdroj: Journal of human reproductive sciences [J Hum Reprod Sci] 2019 Oct-Dec; Vol. 12 (4), pp. 341-344. Date of Electronic Publication: 2019 Dec 17.
DOI: 10.4103/jhrs.JHRS_50_19
Abstrakt: β-thalassemia is a common single-gene disorder in India, with hematopoietic stem cell transplantation (HSCT) being the only cure. HSCT with matched unrelated donor is less successful, whereas finding a human leukocyte antigen (HLA)-matched related donor is difficult. Preimplantation genetic testing for monogenic diseases (PGT-M) with HLA matching is a novel option to have a matched sibling for HSCT for couples having an affected child. We present the first such case report in India. A couple, both carriers of β-thalassemia and having an affected son, underwent PGT-M with HLA matching combined with preimplantation genetic testing for aneuploidies of embryos to have a β - thalassemia-free child. This resulted in birth of a 10/10 HLA-matched sibling.
Competing Interests: There are no conflicts of interest.
(Copyright: © 2019 Journal of Human Reproductive Sciences.)
Databáze: MEDLINE